Publications:

Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene.

Frontiers In Pediatrics

Yang, Yang Y; Xiao, Jing J; Ye, Yuanyuan Y; Xiang, Jianwen J; Wang, Zhu Z; Chen, Jia J

Publication Date: 2023

Variant appearance in text: CREBBP: 5837dupC

PubMed Link: 36937962

Variant Present in the following documents:

• Main text
• fped-11-1059658.pdf

View BVdb publication page

No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome.

International Journal Of Pediatrics

Charalsawadi, Chariyawan C; Trongnit, Sasipong S; Jaruthamsophon, Kanoot K; Wirojanan, Juthamas J; Jaruratanasirikul, Somchit S; Nitiruangjaras, Anupong A; Limprasert, Pornprot P

Publication Date: 2021

Variant appearance in text: CREBBP: 5837dupC; Pro1947Thrfs*19

PubMed Link: 34956371

Variant Present in the following documents:

• 2612846.f1.pdf

View BVdb publication page

Benign and malignant tumors in Rubinstein-Taybi syndrome.

American Journal Of Medical Genetics. Part A

Boot, Max V MV; van Belzen, Martine J MJ; Overbeek, Lucy I LI; Hijmering, Nathalie N; Mendeville, Matias M; Waisfisz, Quinten Q; Wesseling, Pieter P; Hennekam, Raoul C RC; de Jong, Daphne D

Publication Date: 2018-03

Variant appearance in text: CREBBP: 5837dupC

PubMed Link: 29359884

Variant Present in the following documents:

• Main text
• AJMG-176-597.pdf

View BVdb publication page

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

International Journal Of Molecular Sciences

Yoo, Hee Jeong HJ; Kim, Kyung K; Kim, In Hyang IH; Rho, Seong-Hwan SH; Park, Jong-Eun JE; Lee, Ki Young KY; Kim, Soon Ae SA; Choi, Byung Yoon BY; Kim, Namshin N

Publication Date: 2015-03-11

Variant appearance in text: CREBBP: 5837dupC; Pro1947fs

PubMed Link: 25768348

Variant Present in the following documents:

• ijms-16-05697-s001.pdf

View BVdb publication page